Variant report

Variant	rs2774928
Chromosome Location	chr1:62695665-62695666
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62644591..62647445-chr1:62694346..62697285,2	MCF-7	breast:
2	chr1:62686213..62688667-chr1:62693403..62696212,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1050334	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10789108	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10889309	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889310	0.85[ASN][1000 genomes]
rs10889313	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10889315	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11207937	0.81[ASN][1000 genomes]
rs11207940	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11207941	0.99[ASN][1000 genomes]
rs11207942	0.92[ASN][1000 genomes]
rs11207943	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11207944	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11207945	1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs11207946	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11207947	0.87[ASN][1000 genomes]
rs11207948	0.86[ASN][1000 genomes]
rs12030846	0.92[ASN][1000 genomes]
rs12089897	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12096118	0.84[ASN][1000 genomes]
rs12120789	0.99[ASN][1000 genomes]
rs12138777	0.97[ASN][1000 genomes]
rs12144282	0.99[ASN][1000 genomes]
rs12753484	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2067994	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2457812	0.84[ASN][1000 genomes]
rs2481689	0.83[ASN][1000 genomes]
rs2666478	0.82[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs41289438	0.99[ASN][1000 genomes]
rs4322258	0.92[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs4915803	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4915806	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55673263	0.86[ASN][1000 genomes]
rs56318037	0.85[ASN][1000 genomes]
rs61775734	0.99[ASN][1000 genomes]
rs61775736	0.99[ASN][1000 genomes]
rs61775737	0.99[ASN][1000 genomes]
rs6660963	0.80[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6664672	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6680953	0.99[ASN][1000 genomes]
rs6688986	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6696307	0.97[ASN][1000 genomes]
rs6696486	0.99[ASN][1000 genomes]
rs7553446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62689400-62695800	Weak transcription	Colonic Mucosa	Colon
2	chr1:62692200-62697400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:62693400-62696200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:62693400-62696200	Enhancers	Fetal Muscle Leg	muscle
5	chr1:62693400-62697400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr1:62693600-62696600	Genic enhancers	H1 Cell Line	embryonic stem cell
7	chr1:62693600-62696600	Enhancers	Fetal Stomach	stomach
8	chr1:62693600-62700800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:62693600-62700800	Enhancers	Placenta	Placenta
10	chr1:62693800-62696000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:62694000-62695800	Flanking Active TSS	HepG2	liver
12	chr1:62694000-62696000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:62694000-62696600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:62694200-62696000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:62694400-62696000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:62694400-62699400	Enhancers	HMEC	breast
17	chr1:62694600-62696000	Flanking Active TSS	Hela-S3	cervix
18	chr1:62694600-62696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:62694600-62697600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:62694800-62696200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:62694800-62697200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:62694800-62697600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:62694800-62697800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:62694800-62697800	Enhancers	NHEK	skin
25	chr1:62694800-62698600	Weak transcription	Fetal Lung	lung
26	chr1:62695000-62695800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:62695000-62695800	Enhancers	Adipose Nuclei	Adipose
28	chr1:62695000-62696800	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:62695000-62697400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:62695000-62697400	Enhancers	HSMM	muscle
31	chr1:62695000-62697800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:62695400-62695800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:62695400-62695800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:62695400-62697000	Genic enhancers	H9 Cell Line	embryonic stem cell
35	chr1:62695600-62695800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:62695600-62696000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:62695600-62696600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:62695600-62697400	Enhancers	HSMMtube	muscle
39	chr1:62695600-62697400	Enhancers	NH-A	brain

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